A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760161



Internal ID10376469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:82404984..82482053hg38UCSC Ensembl
Innerchr10:84164740..84241809hg19UCSC Ensembl
Innerchr10:84154720..84231789hg18UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3877070
hg1977070
hg1877070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018810, essv7018812
SamplesRW_0312, RW_0555
Known GenesNRG3
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760161
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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